Results 171 to 180 of about 143,001 (214)

Referee report. For: Case Report: Thanatophoric dysplasia [version 1; peer review: 2 approved with reservations, 1 not approved]

Charu Sharma
openalex   +1 more source

Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype

Yates TM, Hunt SE, Lemos D, Pericherla SR, Uhalte EC, Ansari M, Thompson L, Doneva SE, Wright CF, Firth HV, Simpson TI.   +10 more
europepmc   +1 more source

The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia. [PDF]

Prenat Diagn
Rajala K, Toiviainen-Salo S, Mäkitie O, Stefanovic V, Tanner L.   +4 more
europepmc   +1 more source

[Clinical features and variant spectrum of <i>FGFR3</i>-related disorders]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Gu SL, Ying LW, Chang GY, Li X, Li J, Ding Y, Yao RE, Yu TT, Wang XM.   +8 more
europepmc   +1 more source

Hypophosphatasia: 90 Years from a Canadian Discovery-A Comprehensive Review of the <i>ALPL</i> Gene Underlying Rathbun's Syndrome. [PDF]

Genes (Basel)
Sergi CM.
europepmc   +1 more source

A Case of Opsismodysplasia with a Novel <i>INPPL1</i> Variant. [PDF]

Mol Syndromol
Daşar T, Aypar E, Utine GE, Şimşek-Kiper PÖ.   +3 more
europepmc   +1 more source

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature. [PDF]

World J Diabetes
Wang K, Zheng J, Gu LC, Li RR, Su XD, Bai J, Liao L.   +6 more
europepmc   +1 more source

Unraveling the complexity of skeletal dysplasias in the national health system. [PDF]

Front Endocrinol (Lausanne)
Najjar D, Maver A, Peterlin A, Jaklič H, Peterlin B.   +4 more
europepmc   +1 more source

Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development. [PDF]

Ultraschall Med
Chen J, Zhu R, Pan H, Ma Y, Zhu Y, Liu L, Hou X, Haratz KK.   +7 more
europepmc   +1 more source